{ "uniprot_canonical_ac": "A5PKW4-1", "sequence": { "header": "sp|A5PKW4-1|PSD1_HUMAN Isoform 1 of PH and SEC7 domain-containing protein 1 OS=Homo sapiens OX=9606 GN=PSD PE=1 SV=2 CANONICAL=A5PKW4-1", "length": 1024, "sequence": "MAQGAMRFCSEGDCAISPPRCPRRWLPEGPVPQSPPASMYGSTGSLLRRVAGPGPRGRELGRVTAPCTPLRGPPSPRVAPSPWAPSSPTGQPPPGAQSSVVIFRFVEKASVRPLNGLPAPGGLSRSWDLGGVSPPRPTPALGPGSNRKLRLEASTSDPLPARGGSALPGSRNLVHGPPAPPQVGADGLYSSLPNGLGGPPERLATLFGGPADTGFLNQGDTWSSPREVSSHAQRIARAKWEFFYGSLDPPSSGAKPPEQAPPSPPGVGSRQGSGVAVGRAAKYSETDLDTVPLRCYRETDIDEVLAEREEADSAIESQPSSEGPPGTAYPPAPRPGPLPGPHPSLGSGNEDEDDDEAGGEEDVDDEVFEASEGARPGSRMPLKSPVPFLPGTSPSADGPDSFSCVFEAILESHRAKGTSYTSLASLEALASPGPTQSPFFTFELPPQPPAPRPDPPAPAPLAPLEPDSGTSSAADGPWTQRGEEEEAEARAKLAPGREPPSPCHSEDSLGLGAAPLGSEPPLSQLVSDSDSELDSTERLALGSTDTLSNGQKADLEAAQRLAKRLYRLDGFRKADVARHLGKNNDFSKLVAGEYLKFFVFTGMTLDQALRVFLKELALMGETQERERVLAHFSQRYFQCNPEALSSEDGAHTLTCALMLLNTDLHGHNIGKRMTCGDFIGNLEGLNDGGDFPRELLKALYSSIKNEKLQWAIDEEELRRSLSELADPNPKVIKRISGGSGSGSSPFLDLTPEPGAAVYKHGALVRKVHADPDCRKTPRGKRGWKSFHGILKGMILYLQKEEYKPGKALSETELKNAISIHHALATRASDYSKRPHVFYLRTADWRVFLFQAPSLEQMQSWITRINVVAAMFSAPPFPAAVSSQKKFSRPLLPSAATRLSQEEQVRTHEAKLKAMASELREHRAAQLGKKGRGKEAEEQRQKEAYLEFEKSRYSTYAALLRVKLKAGSEELDAVEAALAQAGSTEDGLPPSHSSPSLQPKPSSQPRAQRHSSEPRPGAGSGRRKP" }, "uniprot_id": "PSD1_HUMAN", "enzyme_annotation": [], "synonyms": { "protein": { "refseq": [ "PH and SEC7 domain-containing protein 1 isoform 1", "PH and SEC7 domain-containing protein 1; exchange factor for ARF6; exchange factor for ARF6 A; exchange factor for ADP-ribosylation factor guanine nucleotide factor 6; pleckstrin homology and SEC7 domain-containing protein 1; pleckstrin-Sec7 domains-containing" ], "uniprotkb": [ "PH and SEC7 domain-containing protein 1", "Exchange factor for ADP-ribosylation factor guanine nucleotide factor 6", "Exchange factor for ARF6", "Pleckstrin homology and SEC7 domain-containing protein 1", "Exchange factor for ARF6 A" ] }, "gene": { "refseq": [ "PSD", "EFA6", "EFA6A", "PSD1", "TYL" ], "uniprotkb": [ "PSD", "EFA6", "EFA6A", "KIAA2011", "PSD1", "TYL" ] } }, "keywords": [], "species": [ { "evidence": [ { "url": "https://www.uniprot.org/uniprot/A5PKW4", "id": "A5PKW4", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "recommendedname": { "full": "PH and SEC7 domain-containing protein 1; Exchange factor for ADP-ribosylation factor guanine nucleotide factor 6; Exchange factor for ARF6; Pleckstrin homology and SEC7 domain-containing protein 1; Exchange factor for ARF6 A." }, "publication": [ { "title": "EFA6 proteins regulate lumen formation through alpha-actinin 1.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/29246944", "journal": "Journal of cell science", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257894.1", "id": "NP_001257894.1", "database": "RefSeq" } ], "authors": "Milanini J, Fayad R, Partisani M, Lecine P, Borg JP, Franco M, Luton F", "date": "2018", "pmid": "29246944" }, { "title": "Class I Arfs (Arf1 and Arf3) and Arf6 are localized to the Flemming body and play important roles in cytokinesis.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/26330566", "journal": "Journal of biochemistry", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257894.1", "id": "NP_001257894.1", "database": "RefSeq" } ], "authors": "Hanai A, Ohgi M, Yagi C, Ueda T, Shin HW, Nakayama K", "date": "2016", "pmid": "26330566" }, { "title": "The Pleckstrin and Sec7 domain-containing gene as a novel epigenetic modification marker in human gastric cancer and its clinical significance.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/25355626", "journal": "International journal of oncology", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257894.1", "id": "NP_001257894.1", "database": "RefSeq" } ], "authors": "Zhu X, Liu J, Xu X, Zhang C, Dai D", "date": "2015", "pmid": "25355626" }, { "title": "EFA6 activates Arf6 and participates in its targeting to the Flemming body during cytokinesis.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/23603394", "journal": "FEBS Lett.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A5PKW4/publications", "id": "A5PKW4", "database": "UniProtKB" } ], "authors": "Takahashi S., Nakayama K., Hanai A., Kubo K., Ohgi M., Sakagami H., Shin H.W., Takei T., Ueda T.", "date": "2013", "pmid": "23603394" }, { "title": "ARF6-dependent interaction of the TWIK1 K+ channel with EFA6, a GDP/GTP exchange factor for ARF6.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/15540117", "journal": "EMBO reports", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257894.1", "id": "NP_001257894.1", "database": "RefSeq" } ], "authors": "Decressac S, Franco M, Bendahhou S, Warth R, Knauer S, Barhanin J, Lazdunski M, Lesage F", "date": "2004", "pmid": "15540117" }, { "title": "EFA6, a sec7 domain-containing exchange factor for ARF6, coordinates membrane recycling and actin cytoskeleton organization.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/10075920", "journal": "The EMBO journal", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257894.1", "id": "NP_001257894.1", "database": "RefSeq" } ], "authors": "Franco M, Peters PJ, Boretto J, van Donselaar E, Neri A, D'Souza-Schorey C, Chavrier P", "date": "1999", "pmid": "10075920" }, { "title": "Identification of a novel gene, PSD, adjacent to NFKB2/lyt-10, which contains Sec7 and pleckstrin-homology domains.", "url": "https://www.ncbi.nlm.nih.gov/pubmed/9417912", "journal": "Genomics", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A5PKW4/publications", "id": "A5PKW4", "database": "UniProtKB" } ], "authors": "Fracchiolla N.S., Neri A., Maiolo A.T., Trecca D., Ronchetti D., Perletti L., Talarico D.", "date": "1997", "pmid": "9417912" } ], "glycosylation": [], "mutation": [ { "start_pos": 473, "subjects_positive": "36", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5PKW4", "id": "A5PKW4", "database": "BioMuta" } ], "frequency": "2.4", "annotation": "Filters passed (2/5): patient freq. (2.4%); patient count (36/1514).", "sequence_org": "A", "disease": { "doid": "1324", "url": "http://disease-ontology.org/term/DOID:1324", "icd10": "", "name": "Lung cancer" }, "sequence_mut": "P", "subjects_tested": "1514", "end_pos": 473, "type": "Point mutation" }, { "start_pos": 298, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5PKW4", "id": "A5PKW4", "database": "BioMuta" } ], "frequency": "1.0", "annotation": "Filters passed (2/5): patient freq. (1.0%); num. of cancers (3). In dbSNP: rs773796171.", "sequence_org": "E", "disease": { "doid": "11054", "url": "http://disease-ontology.org/term/DOID:11054", "icd10": "", "name": "Urinary bladder cancer" }, "sequence_mut": "K", "subjects_tested": "103", "end_pos": 298, "type": "Point mutation" }, { "start_pos": 459, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5PKW4", "id": "A5PKW4", "database": "BioMuta" } ], "frequency": "0.3", "annotation": "Filters passed (1/5): num. of cancers (3).", "sequence_org": "A", "disease": { "doid": "1793", "url": "http://disease-ontology.org/term/DOID:1793", "icd10": "", "name": "Pancreatic cancer" }, "sequence_mut": "T", "subjects_tested": "399", "end_pos": 459, "type": "Point mutation" }, { "start_pos": 175, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5PKW4", "id": "A5PKW4", "database": "BioMuta" } ], "frequency": "1.1", "annotation": "Filters passed (1/5): patient freq. (1.1%). In dbSNP: rs1238188868.", "sequence_org": "H", "disease": { "doid": "2394", "url": "http://disease-ontology.org/term/DOID:2394", "icd10": "", "name": "Ovarian cancer" }, "sequence_mut": "Y", "subjects_tested": "93", "end_pos": 175, "type": "Point mutation" }, { "start_pos": 676, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5PKW4", "id": "A5PKW4", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "G", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "V", "subjects_tested": "50", "end_pos": 676, "type": "Point mutation" }, { "start_pos": 425, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5PKW4", "id": "A5PKW4", "database": "BioMuta" } ], "frequency": "0.1", "annotation": "Filters passed (1/5): num. of cancers (3). 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(2.0%).", "sequence_org": "R", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "L", "subjects_tested": "50", "end_pos": 778, "type": "Point mutation" }, { "start_pos": 602, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5PKW4", "id": "A5PKW4", "database": "BioMuta" } ], "frequency": "0.1", "annotation": "Filters passed (1/5): num. of cancers (3).", "sequence_org": "G", "disease": { "doid": "11054", "url": "http://disease-ontology.org/term/DOID:11054", "icd10": "", "name": "Urinary bladder cancer" }, "sequence_mut": "D", "subjects_tested": "742", "end_pos": 602, "type": "Point mutation" }, { "start_pos": 402, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5PKW4", "id": "A5PKW4", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "F", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "V", "subjects_tested": "50", "end_pos": 402, "type": "Point mutation" }, { "start_pos": 571, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5PKW4", "id": "A5PKW4", "database": "BioMuta" } ], "frequency": "1.1", "annotation": "Filters passed (1/5): patient freq. (1.1%).", "sequence_org": "F", "disease": { "doid": "2394", "url": "http://disease-ontology.org/term/DOID:2394", "icd10": "", "name": "Ovarian cancer" }, "sequence_mut": "L", "subjects_tested": "93", "end_pos": 571, "type": "Point mutation" }, { "start_pos": 749, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5PKW4", "id": "A5PKW4", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "L", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "P", "subjects_tested": "50", "end_pos": 749, "type": "Point mutation" }, { "start_pos": 298, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5PKW4", "id": "A5PKW4", "database": "BioMuta" } ], "frequency": "0.2", "annotation": "Filters passed (1/5): num. of cancers (3). 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(2.0%).", "sequence_org": "Q", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "*", "subjects_tested": "50", "end_pos": 940, "type": "Point mutation" }, { "start_pos": 425, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5PKW4", "id": "A5PKW4", "database": "BioMuta" } ], "frequency": "0.1", "annotation": "Filters passed (1/5): num. of cancers (3). 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(1.1%).", "sequence_org": "V", "disease": { "doid": "9256", "url": "http://disease-ontology.org/term/DOID:9256", "icd10": "", "name": "Colorectal cancer" }, "sequence_mut": "F", "subjects_tested": "94", "end_pos": 731, "type": "Point mutation" }, { "start_pos": 459, "subjects_positive": "2", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5PKW4", "id": "A5PKW4", "database": "BioMuta" } ], "frequency": "0.3", "annotation": "Filters passed (1/5): num. of cancers (3).", "sequence_org": "A", "disease": { "doid": "263", "url": "http://disease-ontology.org/term/DOID:263", "icd10": "", "name": "Kidney cancer" }, "sequence_mut": "T", "subjects_tested": "655", "end_pos": 459, "type": "Point mutation" }, { "start_pos": 298, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5PKW4", "id": "A5PKW4", "database": "BioMuta" } ], "frequency": "0.1", "annotation": "Filters passed (1/5): num. of cancers (3). 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(2.0%).", "sequence_org": "G", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "V", "subjects_tested": "50", "end_pos": 326, "type": "Point mutation" }, { "start_pos": 602, "subjects_positive": "2", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5PKW4", "id": "A5PKW4", "database": "BioMuta" } ], "frequency": "0.3", "annotation": "Filters passed (1/5): num. of cancers (3).", "sequence_org": "G", "disease": { "doid": "263", "url": "http://disease-ontology.org/term/DOID:263", "icd10": "", "name": "Kidney cancer" }, "sequence_mut": "D", "subjects_tested": "756", "end_pos": 602, "type": "Point mutation" }, { "start_pos": 459, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5PKW4", "id": "A5PKW4", "database": "BioMuta" } ], "frequency": "0.1", "annotation": "Filters passed (1/5): num. of cancers (3).", "sequence_org": "A", "disease": { "doid": "10283", "url": "http://disease-ontology.org/term/DOID:10283", "icd10": "", "name": "Prostate cancer" }, "sequence_mut": "T", "subjects_tested": "1118", "end_pos": 459, "type": "Point mutation" }, { "start_pos": 673, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5PKW4", "id": "A5PKW4", "database": "BioMuta" } ], "frequency": "2.0", "annotation": "Filters passed (1/5): patient freq. (2.0%).", "sequence_org": "M", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "Thyroid cancer" }, "sequence_mut": "K", "subjects_tested": "50", "end_pos": 673, "type": "Point mutation" }, { "start_pos": 602, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5PKW4", "id": "A5PKW4", "database": "BioMuta" } ], "frequency": "0.1", "annotation": "Filters passed (1/5): num. of cancers (3).", "sequence_org": "G", "disease": { "doid": "1319", "url": "http://disease-ontology.org/term/DOID:1319", "icd10": "", "name": "Brain cancer" }, "sequence_mut": "D", "subjects_tested": "678", "end_pos": 602, "type": "Point mutation" }, { "start_pos": 425, "subjects_positive": "1", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/A5PKW4", "id": "A5PKW4", "database": "BioMuta" } ], "frequency": "0.2", "annotation": "Filters passed (1/5): num. of cancers (3). In dbSNP: rs751241410.", "sequence_org": "S", "disease": { "doid": "363", "url": "http://disease-ontology.org/term/DOID:363", "icd10": "", "name": "Uterine cancer" }, "sequence_mut": "L", "subjects_tested": "558", "end_pos": 425, "type": "Point mutation" } ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A5PKW4#A5PKW4-2", "isoform_ac": "A5PKW4-2", "locus": { "end_pos": 102403203, "start_pos": 102414184, "chromosome": "10", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000611678", "id": "ENST00000611678", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000481250", "id": "ENSP00000481250", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A5PKW4-2|PSD1_HUMAN Isoform 2 of PH and SEC7 domain-containing protein 1 OS=Homo sapiens OX=9606 GN=PSD PE=1 SV=2 CANONICAL=A5PKW4-1", "length": 645, "sequence": "MPLKSPVPFLPGTSPSADGPDSFSCVFEAILESHRAKGTSYTSLASLEALASPGPTQSPFFTFELPPQPPAPRPDPPAPAPLAPLEPDSGTSSAADGPWTQRGEEEEAEARAKLAPGREPPSPCHSEDSLGLGAAPLGSEPPLSQLVSDSDSELDSTERLALGSTDTLSNGQKADLEAAQRLAKRLYRLDGFRKADVARHLGKNNDFSKLVAGEYLKFFVFTGMTLDQALRVFLKELALMGETQERERVLAHFSQRYFQCNPEALSSEDGAHTLTCALMLLNTDLHGHNIGKRMTCGDFIGNLEGLNDGGDFPRELLKALYSSIKNEKLQWAIDEEELRRSLSELADPNPKVIKRISGGSGSGSSPFLDLTPEPGAAVYKHGALVRKVHADPDCRKTPRGKRGWKSFHGILKGMILYLQKEEYKPGKALSETELKNAISIHHALATRASDYSKRPHVFYLRTADWRVFLFQAPSLEQMQSWITRINVVAAMFSAPPFPAAVSSQKKFSRPLLPSAATRLSQEEQVRTHEAKLKAMASELREHRAAQLGKKGRGKEAEEQRQKEAYLEFEKSRYSTYAALLRVKLKAGSEELDAVEAALAQAGSTEDGLPPSHSSPSLQPKPSSQPRAQRHSSEPRPGAGSGRRKP" } }, { "url": "https://www.uniprot.org/uniprot/A5PKW4#A0A1B0GUT6-1", "isoform_ac": "A0A1B0GUT6-1", "locus": { "end_pos": 102405350, "start_pos": 102409092, "chromosome": "10", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000461698", "id": "ENST00000461698", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000490238", "id": "ENSP00000490238", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|A0A1B0GUT6-1|PSD1_HUMAN Computationally mapped isoform of PH and SEC7 domain-containing protein 1 OS=Homo sapiens OX=9606 GN=PSD PE=1 SV=1 CANONICAL=A5PKW4-1", "length": 143, "sequence": "MIGVNSIHSSAGRLRSRSLCSVRYGRTHRGAETLCYGWPQRSRSLKPVLYTDLVVSRLQSRKKKKAALYSSIKNEKLQWAIDEEELRRSLSELADPNPKVIKRISGGSGSGSSPFLDLTPEPGAAVYKHGALVRKVHADPDCR" } }, { "url": "https://www.uniprot.org/uniprot/A5PKW4#A5PKW4-1", "isoform_ac": "A5PKW4-1", "locus": { "end_pos": 102403203, "start_pos": 102417038, "chromosome": "10", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000020673", "id": "ENST00000020673", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000020673", "id": "ENSP00000020673", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A5PKW4-1|PSD1_HUMAN Isoform 1 of PH and SEC7 domain-containing protein 1 OS=Homo sapiens OX=9606 GN=PSD PE=1 SV=2 CANONICAL=A5PKW4-1", "length": 1024, "sequence": "MAQGAMRFCSEGDCAISPPRCPRRWLPEGPVPQSPPASMYGSTGSLLRRVAGPGPRGRELGRVTAPCTPLRGPPSPRVAPSPWAPSSPTGQPPPGAQSSVVIFRFVEKASVRPLNGLPAPGGLSRSWDLGGVSPPRPTPALGPGSNRKLRLEASTSDPLPARGGSALPGSRNLVHGPPAPPQVGADGLYSSLPNGLGGPPERLATLFGGPADTGFLNQGDTWSSPREVSSHAQRIARAKWEFFYGSLDPPSSGAKPPEQAPPSPPGVGSRQGSGVAVGRAAKYSETDLDTVPLRCYRETDIDEVLAEREEADSAIESQPSSEGPPGTAYPPAPRPGPLPGPHPSLGSGNEDEDDDEAGGEEDVDDEVFEASEGARPGSRMPLKSPVPFLPGTSPSADGPDSFSCVFEAILESHRAKGTSYTSLASLEALASPGPTQSPFFTFELPPQPPAPRPDPPAPAPLAPLEPDSGTSSAADGPWTQRGEEEEAEARAKLAPGREPPSPCHSEDSLGLGAAPLGSEPPLSQLVSDSDSELDSTERLALGSTDTLSNGQKADLEAAQRLAKRLYRLDGFRKADVARHLGKNNDFSKLVAGEYLKFFVFTGMTLDQALRVFLKELALMGETQERERVLAHFSQRYFQCNPEALSSEDGAHTLTCALMLLNTDLHGHNIGKRMTCGDFIGNLEGLNDGGDFPRELLKALYSSIKNEKLQWAIDEEELRRSLSELADPNPKVIKRISGGSGSGSSPFLDLTPEPGAAVYKHGALVRKVHADPDCRKTPRGKRGWKSFHGILKGMILYLQKEEYKPGKALSETELKNAISIHHALATRASDYSKRPHVFYLRTADWRVFLFQAPSLEQMQSWITRINVVAAMFSAPPFPAAVSSQKKFSRPLLPSAATRLSQEEQVRTHEAKLKAMASELREHRAAQLGKKGRGKEAEEQRQKEAYLEFEKSRYSTYAALLRVKLKAGSEELDAVEAALAQAGSTEDGLPPSHSSPSLQPKPSSQPRAQRHSSEPRPGAGSGRRKP" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/www_bget?hsa:5662", "resource": "KEGG Pathway", "id": "hsa:5662", "name": "" } ], "function": [ { "url": "https://www.uniprot.org/uniprot/A5PKW4#function", "annotation": "Guanine nucleotide exchange factor for ARF6 (PubMed:23603394). Induces cytoskeletal remodeling (By similarity).", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A5PKW4#function", "id": "A5PKW4", "database": "UniProtKB" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257894.1", "annotation": "EFA6A recruits alpha-actinin 1 (ACTN1) through direct binding. Publication Status: Online-Only", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257894.1", "id": "NP_001257894.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257894.1", "annotation": "Arf GTPases are likely to be locally activated by EFA6 and in turn targeted to the Flemming body to complete cytokinesis.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257894.1", "id": "NP_001257894.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257894.1", "annotation": "PSD expression might be a useful biomarker for epigenetic-based gastric cancer early diagnosis and may lead to the identification of new targets for pharmacological intervention.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257894.1", "id": "NP_001257894.1", "database": "RefSeq" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "Q9ESQ7-1", "protein_name": "PH and SEC7 domain-containing protein 1; Exchange factor for ADP-ribosylation factor guanine nucleotide factor 6; Exchange factor for ARF6; Pleckstrin homology and SEC7 domain-containing protein 1; Exchange factor for ARF6 A.", "sequence": { "length": 649, "sequence": "MPHSGLLKSPVPFLPGTSPSADGPDSFSCMFEAIMESHRAKGTSYSSLASLEALASPGPTQSPFFTFEMPPQPPAPRPDPPAPAPLAPLEPDSGTSSVADGPWTQRREVEESDAGATLAPRKELPSPSHSEDSLGLGAAPLGSEPPLSQLVSDSDSELDSTERLALGSTDTLSNGQKADLEAAQRLAKRLYRLDGFRKADVARHLGKNNDFSKLVAGEYLKFFVFTGMTLDQALRVFLKELALMGETQERERVLAHFSQRYFQCNPEALSSEDGAHTLTCALMLLNTDLHGHNIGKRMTCGDFIGNLEGLNDGGDFPRELLKALYSSIKNEKLQWAIDEEELRRSLSELADPNPKVIKRVSGGSGSSSSPFLDLTPEPGAAVYKHGALVRKVHADPDCRKTPRGKRGWKSFHGILKGMILYLQKEEYQPGKALSEAELKNAISIHHALATRASDYSKRPHVFYLRTADWRVFLFQAPSLEQMQSWITRINVVAAMFSAPPFPAAVSSQKKFSRPLLPSAATRLSQEEQVRTHEAKLKAMASELREHRAAHLGKKARGKEAEEQRQKETYLEFEKSRYGTYAALLRVKMKAASEELDAIEAALAQAGSTEEGCPPPHSSPSLQPNPTSQPRAQRPGSEARAGAGSTRPKP" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/31115", "id": "31115", "database": "MGI" } ], "organism": "Rattus norvegicus", "tax_id": 10116 }, { "uniprot_canonical_ac": "Q5DTT2-1", "protein_name": "PH and SEC7 domain-containing protein 1; Exchange factor for ADP-ribosylation factor guanine nucleotide factor 6; Exchange factor for ARF6; Pleckstrin homology and SEC7 domain-containing protein 1; Exchange factor for ARF6 A.", "sequence": { "length": 1024, "sequence": "MAQGAMRFCSEGDCAISPPRCPRRWLPEGPVPQSPPASMYGSTGSLIRRVVGPGPRGRDLGRVTAPCTPLRAPPSPHIAPSPWGPSSPTGQPPPGAQSSVVIFRFVEKASVRPLNGLPASGGLSRSWDLGGISAPRPTPALGPGCNRKLRLEASTSDPLPAGGGSVLPGSRDPSRGPLVPPQIGADGLYSSLPNGLGGTPEHLAMHFRGPADTGFLNQGDTWSSPREVSSHAQRIARAKWEFFYGSLDAPSSGAKPPEQVLPSRGVGSKQGSGVAVGRAAKYSETDLDKVPLRCYRETDIDEVLAEREEADSAIESQPSSEGPHGTAQPPASRPSPCPGPSSSLGSGNEDDEAGGEEDVDDEVFEASEGARPGDHMPHSGLLKSPVPFLLGTSPSADGPDSFSCVFEAILESHRAKGTSYSSLASLEALASPGPTQSPFFTFEMPPQPPAPRPDPPAPAPLAPLEPDSGTSSAADGPWTQRREVEESDAGATLAPRKELPSPSHSEDSFGLGAAPLGSEPPLSQLVSDSDSELDSTERLALGSTDTLSNGQKADLEAAQRLAKRLYRLDGFRKADVARHLGKNNDFSKLVAGEYLKFFVFTGMTLDQALRVFLKELALMGETQERERVLAHFSQRYFQCNPEALSSEDGAHTLTCALMLLNTDLHGHNIGKRMTCGDFIGNLEGLNDGGDFPRELLKALYSSIKNEKLQWAIDEEELRRSLSELADPNPKVIKRVSGGSGSSSSPFLDLTPEPGAAVYKHGALVRKVHADPDCRKTPRGKRGWKSFHGILKGMILYLQKEEYQPGKALSEAELKNAISIHHALATRASDYSKRPHVFYLRTADWRVFLFQAPSLEQMQSWITRINVVAAMFSAPPFPAAVSSQKKFSRPLLPSAATRLSQEEQVRTHEAKLKAMASELREHRAAHLGKKARGKEADEQRQKEAYLEFEKSRYGTYAALLRVKMKAASEELDTIEAALAQAGSTEDGCPPPHSSPSLRPKPTSQPRAQRPGSETRAGAGSTRPKP" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/31115", "id": "31115", "database": "MGI" } ], "organism": "Mus musculus", "tax_id": 10090 } ], "refseq": { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257894.1", "ac": "NP_001257894.1", "name": "PH and SEC7 domain-containing protein 1 isoform 1; PH and SEC7 domain-containing protein 1; exchange factor for ARF6; exchange factor for ARF6 A; exchange factor for ADP-ribosylation factor guanine nucleotide factor 6; pleckstrin homology and SEC7 domain-containing protein 1; pleckstrin-Sec7 domains-containing.", "summary": "This gene encodes a Plekstrin homology and SEC7 domains-containing protein that functions as a guanine nucleotide exchange factor. The encoded protein regulates signal transduction by activating ADP-ribosylation factor 6. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]." }, "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005086", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A5PKW4", "id": "A5PKW4", "database": "UniProtKB" } ], "name": "ARF guanyl-nucleotide exchange factor activity", "id": "GO:0005086" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005543", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A5PKW4", "id": "A5PKW4", "database": "UniProtKB" } ], "name": "phospholipid binding", "id": "GO:0005543" } ], "total": 2, "name": "Molecular Function" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032154", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A5PKW4", "id": "A5PKW4", "database": "UniProtKB" } ], "name": "cleavage furrow", "id": "GO:0032154" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032587", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A5PKW4", "id": "A5PKW4", "database": "UniProtKB" } ], "name": "ruffle membrane", "id": "GO:0032587" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098999", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A5PKW4", "id": "A5PKW4", "database": "UniProtKB" } ], "name": "extrinsic component of postsynaptic endosome membrane", "id": "GO:0098999" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043197", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A5PKW4", "id": "A5PKW4", "database": "UniProtKB" } ], "name": "dendritic spine", "id": "GO:0043197" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099092", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A5PKW4", "id": "A5PKW4", "database": "UniProtKB" } ], "name": "postsynaptic density, intracellular component", "id": "GO:0099092" } ], "total": 5, "name": "Cellular Component" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007165", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A5PKW4", "id": "A5PKW4", "database": "UniProtKB" } ], "name": "signal transduction", "id": "GO:0007165" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031175", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A5PKW4", "id": "A5PKW4", "database": "UniProtKB" } ], "name": "neuron projection development", "id": "GO:0031175" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032012", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A5PKW4", "id": "A5PKW4", "database": "UniProtKB" } ], "name": "regulation of ARF protein signal transduction", "id": "GO:0032012" } ], "total": 3, "name": "Biological Process" } ] }, "site_annotation": [], "crossref": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001257894.1", "id": "NP_001257894.1", "database": "RefSeq" }, { "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=9507", "id": "9507", "database": "HGNC" }, { "url": "https://pharos.nih.gov/targets/A5PKW4", "id": "A5PKW4", "database": "PHAROS" }, { "url": "https://www.nextprot.org/entry/NX_A5PKW4", "id": "NX_A5PKW4", "database": "neXtProt" }, { "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=PSD", "id": "PSD", "database": "GeneCards" }, { "url": "https://www.genome.jp/dbget-bin/www_bget?hsa:5662", "id": "hsa:5662", "database": "KEGG Pathway" }, { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000059915", "id": "ENSG00000059915", "database": "Bgee" }, { "url": "https://omabrowser.org/oma/group/DAPWTER/", "id": "DAPWTER", "database": "OMA" }, { "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd00171", "id": "cd00171", "database": "CDD" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR001849", "id": "IPR001849", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR011993", "id": "IPR011993", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR001605", "id": "IPR001605", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR000904", "id": "IPR000904", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR023394", "id": "IPR023394", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR035999", "id": "IPR035999", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR041681", "id": "IPR041681", "database": "InterPro" }, { "url": "http://pfam.xfam.org/family/PF01369", "id": "PF01369", "database": "Pfam" }, { "url": "http://pfam.xfam.org/family/PF15410", "id": "PF15410", "database": "Pfam" }, { "url": "http://research.bioinformatics.udel.edu/pro/entry/PR_A5PKW4", "id": "PR_A5PKW4", "database": "PRO" }, { "url": "https://www.ebi.ac.uk/intact/interactors/id:A5PKW4*", "id": "A5PKW4", "database": "IntAct" }, { "url": "https://www.ncbi.nlm.nih.gov/gene/5662", "id": "5662", "database": "GeneID" } ], "expression_disease": [ { "trend": "Down", "disease": { "doid": "10283", "url": "http://disease-ontology.org/term/DOID:10283", "icd10": "", "name": "DOID:10283 / Prostate cancer [PCa]" }, "significant": "Yes", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A5PKW4", "id": "A5PKW4", "database": "BioXpress" } ] }, { "trend": "Down", "disease": { "doid": "5041", "url": "http://disease-ontology.org/term/DOID:5041", "icd10": "", "name": "DOID:5041 / Esophageal cancer [EC]" }, "significant": "Yes", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A5PKW4", "id": "A5PKW4", "database": "BioXpress" } ] }, { "trend": "Up", "disease": { "doid": "3910", "url": "http://disease-ontology.org/term/DOID:3910", "icd10": "", "name": "DOID:3910 / Lung adenocarcinoma" }, "significant": "No", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A5PKW4", "id": "A5PKW4", "database": "BioXpress" } ] }, { "trend": "Down", "disease": { "doid": "11054", "url": "http://disease-ontology.org/term/DOID:11054", "icd10": "", "name": "DOID:11054 / Urinary bladder cancer [UBC]" }, "significant": "Yes", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A5PKW4", "id": "A5PKW4", "database": "BioXpress" } ] }, { "trend": "Up", "disease": { "doid": "1781", "url": "http://disease-ontology.org/term/DOID:1781", "icd10": "", "name": "DOID:1781 / Thyroid cancer [Thyca]" }, "significant": "Yes", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A5PKW4", "id": "A5PKW4", "database": "BioXpress" } ] }, { "trend": "Up", "disease": { "doid": "3907", "url": "http://disease-ontology.org/term/DOID:3907", "icd10": "", "name": "DOID:3907 / Lung squamous cell carcinoma" }, "significant": "Yes", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A5PKW4", "id": "A5PKW4", "database": "BioXpress" } ] }, { "trend": "Down", "disease": { "doid": "3571", "url": "http://disease-ontology.org/term/DOID:3571", "icd10": "", "name": "DOID:3571 / Liver cancer [Livca]" }, "significant": "No", "evidence": [ { "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/A5PKW4", "id": "A5PKW4", "database": "BioXpress" } ] } ], "uniprot_ac": "A5PKW4", "disease": [], "mass": { "monoisotopic_mass": 109543.0, "chemical_mass": 109543.0 }, "expression_tissue": [ { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0009853", "uberon": "0009853", "name": "Body of uterus" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000059915", "id": "ENSG00000059915", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000458", "uberon": "0000458", "name": "Endocervix" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000059915", "id": "ENSG00000059915", "database": "Bgee" } ] }, { "tissue": { "url": "http://purl.obolibrary.org/obo/UBERON_0000948", "uberon": "0000948", "name": "Heart" }, "present": "yes", "evidence": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSG00000059915", "id": 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